Formiini INF2 on tärkeä normaalin dyneiinin kerryttämisessä.INF1- mutaatio lisää proteolyysiä -mitä tietä?

 https://pubmed.ncbi.nlm.nih.gov/39621430/

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  GeneCards Summary for INF2 Gene

  INF2 (Inverted Formin 2) is a Protein Coding gene. Diseases associated with INF2 include Charcot-Marie-Tooth Disease, Dominant Intermediate E and Focal Segmental Glomerulosclerosis 5. Among its related pathways are Primary focal segmental glomerulosclerosis (FSGS) and Nephrotic syndrome. Gene Ontology (GO) annotations related to this gene include binding and small GTPase binding. An important paralog of this gene is DIAPH3.

. 2025 Jan 1;6(1):38-48.

doi: 10.34067/KID.0000000659. Epub 2024 Dec 2.

Dynll1-PI31 Interaction Enhances Proteolysis Through the Proteasome, Representing a Novel Therapeutic Target for INF2-Related FSGS

Jillian Williquett  ¹ , Chandra Perez-Gill  ² , Chantal Allamargot  ³ , Faith Rooney  ¹ , Martin R Pollak  ⁴ , Hua Sun  ¹

Affiliations

• PMID: 39621430
• PMCID: PMC11793186
• DOI: 10.34067/KID.0000000659

Abstract

Key Points:

1. The R218Q mutation disrupts sequestration of Dynll1 by inverted formin 2, promotes Dynll1-PI31 interaction, and enhances proteasome-mediated nephrin degradation.

2. Suppression of proteasome-mediated proteolysis with proteasome inhibitors is a new therapeutic strategy for inverted formin 2-mediated FSGS.

Kommentti:  Mitä tietä proteolyysiin?

 ...one of these representative INF2 mutations that causes podocytopathy, was found to promote dynein-mediated proteolysis by diverting its cargoes (e.g., nephrin) to the autophagy lysosome system (ALS).⁴ The ALS and the ubiquitin proteasome system (UPS) are two major proteolytic systems with complimentary roles in maintaining proteostasis in podocytes.¹